InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATOH7

Summary

InnateDB Protein

IDBP-75987.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATOH7

Protein Name

atonal homolog 7 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362777

InnateDB Gene

IDBG-75985 (ATOH7)

Protein Structure

UniProt Annotation

Function

Transcription factor involved in the differentiation of retinal ganglion cells. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Retinal non-attachment, congenital, non-syndromic (RNANC) [MIM:221900]: A condition characterized by separation of the inner layers of the retina (neural retina) from the pigment epithelium. Clinical findings include lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise normal individuals. {ECO:0000269PubMed:21441919}. Note=The disease is caused by mutations affecting the gene represented in this entry. RNANC is caused by a 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0046983	protein dimerization activity

Biological Process

GO:0003407	neural retina development
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007623	circadian rhythm
GO:0009649	entrainment of circadian clock
GO:0021554	optic nerve development
GO:0030154	cell differentiation